Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

J Med Genet. 2000 Nov;37(11):E33. doi: 10.1136/jmg.37.11.e33.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Child
  • Child, Preschool
  • Collagen / genetics*
  • Collagen / ultrastructure
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / genetics*
  • Ehlers-Danlos Syndrome / pathology
  • Female
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Sequence Deletion

Substances

  • Collagen
  • DNA